| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 |
|
0.900 | 1.000 | 15 | 2006 | 2019 | ||||||||
|
0.790 | 0.200 | 1 | 152307547 | stop gained | G/A;C;T | snv | 2.8E-03; 4.0E-06; 1.6E-05 |
|
0.040 | 1.000 | 4 | 2009 | 2020 | ||||||||
|
0.882 | 0.080 | 14 | 21431511 | frameshift variant | GAGAGCTTGGCAGTCCA/- | delins |
|
0.700 | 1.000 | 4 | 2012 | 2016 | |||||||||
|
0.695 | 0.440 | 16 | 27342243 | missense variant | G/A;T | snv | 3.6E-05; 2.9E-04 |
|
0.040 | 0.500 | 4 | 2002 | 2016 | ||||||||
|
0.827 | 0.160 | 1 | 152305146 | stop gained | G/A;C;T | snv | 3.6E-05; 4.0E-06; 1.5E-03 |
|
0.030 | 1.000 | 3 | 2010 | 2015 | ||||||||
|
0.807 | 0.280 | 15 | 89326678 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 3 | 2010 | 2017 | |||||||||
|
0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.882 | 0.120 | 1 | 152307225 | stop gained | G/C;T | snv | 2.0E-05 |
|
0.020 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
0.851 | 0.120 | 1 | 152302822 | stop gained | T/A;C | snv | 1.4E-03; 8.0E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2016 | 2020 | |||||||||
|
0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv |
|
0.020 | 0.500 | 2 | 2011 | 2011 | |||||||||
|
0.776 | 0.320 | 16 | 27362551 | missense variant | A/C;G;T | snv | 0.13; 1.2E-04; 3.6E-05 |
|
0.020 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 |
|
0.710 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.925 | 0.120 | 1 | 152205542 | intron variant | C/G;T | snv |
|
0.020 | 0.500 | 2 | 2010 | 2013 | |||||||||
|
0.827 | 0.160 | 7 | 17298523 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 2 | 198016459 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 2 | 8526108 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 3 | 196049444 | 3 prime UTR variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.160 | 11 | 65791795 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 1 | 2579316 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 3 | 187711669 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 17 | 81290360 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 1 | 152313436 | missense variant | G/A;C;T | snv | 6.0E-04; 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 9 | 128721272 | missense variant | T/A;C | snv | 7.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |